Obituary

Herbert Scheinberg

Wilson's disease is a rare disorder of copper metabolism, an "orphan disease" - a condition so uncommon that its diagnosis and treatment had been neglected. The disease was recognised by the British neurologist Kinnear Wilson in 1912, but a simple means of detecting it did not exist until the 1950s, when Herbert Scheinberg, who has died aged 89, developed a test for it while working with Dr David Gitlin at Harvard medical school.

Sufferers from Wilson's disease, who inherit the gene from both parents, accumulate toxic quantities of copper in the brain, liver and other organs. At least one person in 30,000 suffers from it; most develop neurological or mental symptoms in early adult life, but many are misdiagnosed for years. They also develop a golden-brown ring, consisting of copper compounds, around their irises. The disease, fatal if untreated, is relatively common in Bedlington terriers, which has helped research.

Scheinberg and Gitlin developed a biochemical test that detects a deficiency of caeruloplasmin, a protein that carries copper from the body. With a liver biopsy, it enables diagnosis in the early stages of the disease.

Scheinberg was born in Manhattan, New York, and educated at DeWitt Clinton high school in the Bronx. He graduated from Harvard University in chemistry in 1940, and in medicine in 1943. After service at a military hospital in Maryland he returned to Harvard as a junior fellow and stayed there until 1955, when he became a professor of medicine at the newly founded Albert Einstein college of medicine in New York. He led the division of genetic medicine until he retired in 1992.

His early research work was on the treatment of rheumatoid arthritis. After developing the Wilson's test he worked with the world's two other experts in the disease - Irmin Sternlieb, in New York, and John Walshe at Cambridge University. Walshe developed a remedy, initially penicillamine tablets and later trientine, that helps the body to excrete copper in the urine. After initial treatment, patients avoid copper-rich foods, including chocolate, shellfish and nuts, and need only low doses of drugs. Scheinberg contacted Walshe when he published his treatment in 1950, and the two men became friends.

Later in his career Scheinberg developed a test for Menkes disease, a rare condition in which patients cannot retain sufficient copper.

Scheinberg's hobby was astronomy, and he travelled to see all the major eclipses of the sun. He had great tenacity, following through his ideas to the end, and he wrote letters to the New York Times on many topics, including Charlie Chaplin, his favourite entertainer.

Scheinberg's first wife, Tess Levine, died of a brain tumour a month after giving birth to their daughter. In 1957 he married Denise Mangravite; they had a son and daughter. Latterly he developed Alzheimer's disease and was moved to a nursing home. He is survived by Denise and his three children.

• Israel Herbert Scheinberg, physician and medical researcher, born 16 August 1919; died 4 April 2009